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Cerebrovascular disorders associated with genetic lesions

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Abstract

Cerebrovascular disorders are underlain by perturbations in cerebral blood flow and abnormalities in blood vessel structure. Here, we provide an overview of the current knowledge of select cerebrovascular disorders that are associated with genetic lesions and connect genomic findings with analyses aiming to elucidate the cellular and molecular mechanisms of disease pathogenesis. We argue that a mechanistic understanding of genetic (familial) forms of cerebrovascular disease is a prerequisite for the development of rational therapeutic approaches, and has wider implications for treatment of sporadic (non-familial) forms, which are usually more common.

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Acknowledgements

We thank Drs. Murat Gunel, Charles Matouk, Branden Cord (Department of Neurosurgery, Yale School of Medicine) and Francisco Lopera (University of Antioquia, Colombia) for sharing MR and CT-angiography images and the two anonymous reviewers for suggestions. P.K. was supported by the German Academic Scholarship Foundation. Work in the Louvi laboratory is supported by the National Institutes of Health (NIH).

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  1. Departments of Neurosurgery and Neuroscience, Program on Neurogenetics, Yale School of Medicine, P.O. Box 208082, New Haven, CT, 06520-8082, USA

    Philipp Karschnia, Sayoko Nishimura & Angeliki Louvi

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Karschnia, P., Nishimura, S. & Louvi, A. Cerebrovascular disorders associated with genetic lesions. Cell. Mol. Life Sci. 76, 283–300 (2019). https://doi.org/10.1007/s00018-018-2934-5

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